ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.210del (p.Ser71fs)

dbSNP: rs1557486313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777549 SCV000913412 pathogenic Hereditary cancer-predisposing syndrome 2020-04-15 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 3 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001385505 SCV001585383 pathogenic Familial adenomatous polyposis 2 2020-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant has been observed in individual(s) with polyposis and colorectal cancer (PMID: 12606733). This variant is also known as 252delG in the literature. ClinVar contains an entry for this variant (Variation ID: 631361). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser99Alafs*3) in the MUTYH gene. It is expected to result in an absent or disrupted protein product.
All of Us Research Program, National Institutes of Health RCV001385505 SCV004837953 pathogenic Familial adenomatous polyposis 2 2023-06-05 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 3 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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